Incidental Mutation 'IGL02938:Pbrm1'
ID |
364414 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pbrm1
|
Ensembl Gene |
ENSMUSG00000042323 |
Gene Name |
polybromo 1 |
Synonyms |
2310032M22Rik, BAF180, 2610016F04Rik, Pb1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02938
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
30741095-30843549 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 30789761 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 792
(S792P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122805
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022471]
[ENSMUST00000022474]
[ENSMUST00000052239]
[ENSMUST00000090214]
[ENSMUST00000112092]
[ENSMUST00000112094]
[ENSMUST00000112095]
[ENSMUST00000146325]
[ENSMUST00000135704]
[ENSMUST00000112098]
[ENSMUST00000123678]
[ENSMUST00000156628]
[ENSMUST00000136237]
|
AlphaFold |
Q8BSQ9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022471
AA Change: S803P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000022471 Gene: ENSMUSG00000042323 AA Change: S803P
Domain | Start | End | E-Value | Type |
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
BROMO
|
516 |
627 |
6.07e-39 |
SMART |
BROMO
|
651 |
765 |
3.01e-43 |
SMART |
BROMO
|
775 |
881 |
2.53e-18 |
SMART |
coiled coil region
|
907 |
934 |
N/A |
INTRINSIC |
BAH
|
956 |
1074 |
1.33e-45 |
SMART |
low complexity region
|
1083 |
1097 |
N/A |
INTRINSIC |
BAH
|
1156 |
1272 |
3.02e-35 |
SMART |
low complexity region
|
1318 |
1338 |
N/A |
INTRINSIC |
HMG
|
1378 |
1450 |
8.91e-10 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022474
AA Change: S818P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000022474 Gene: ENSMUSG00000042323 AA Change: S818P
Domain | Start | End | E-Value | Type |
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
BROMO
|
531 |
642 |
6.07e-39 |
SMART |
BROMO
|
666 |
780 |
3.01e-43 |
SMART |
BROMO
|
790 |
896 |
2.53e-18 |
SMART |
coiled coil region
|
922 |
949 |
N/A |
INTRINSIC |
BAH
|
971 |
1089 |
1.33e-45 |
SMART |
low complexity region
|
1098 |
1112 |
N/A |
INTRINSIC |
BAH
|
1171 |
1287 |
3.02e-35 |
SMART |
low complexity region
|
1333 |
1353 |
N/A |
INTRINSIC |
HMG
|
1393 |
1465 |
8.91e-10 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000052239
AA Change: S803P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000060476 Gene: ENSMUSG00000042323 AA Change: S803P
Domain | Start | End | E-Value | Type |
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
BROMO
|
516 |
627 |
6.07e-39 |
SMART |
BROMO
|
651 |
765 |
3.01e-43 |
SMART |
BROMO
|
775 |
881 |
2.53e-18 |
SMART |
coiled coil region
|
907 |
934 |
N/A |
INTRINSIC |
BAH
|
956 |
1049 |
8.64e-22 |
SMART |
low complexity region
|
1058 |
1072 |
N/A |
INTRINSIC |
BAH
|
1131 |
1247 |
3.02e-35 |
SMART |
low complexity region
|
1293 |
1310 |
N/A |
INTRINSIC |
HMG
|
1326 |
1396 |
2.87e-13 |
SMART |
low complexity region
|
1405 |
1430 |
N/A |
INTRINSIC |
low complexity region
|
1449 |
1477 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090214
AA Change: S803P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000087682 Gene: ENSMUSG00000042323 AA Change: S803P
Domain | Start | End | E-Value | Type |
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
BROMO
|
516 |
627 |
6.07e-39 |
SMART |
BROMO
|
651 |
765 |
3.01e-43 |
SMART |
BROMO
|
775 |
881 |
2.53e-18 |
SMART |
coiled coil region
|
907 |
934 |
N/A |
INTRINSIC |
BAH
|
956 |
1074 |
1.33e-45 |
SMART |
low complexity region
|
1083 |
1097 |
N/A |
INTRINSIC |
BAH
|
1156 |
1272 |
3.02e-35 |
SMART |
low complexity region
|
1318 |
1338 |
N/A |
INTRINSIC |
HMG
|
1378 |
1448 |
1.62e-21 |
SMART |
low complexity region
|
1464 |
1475 |
N/A |
INTRINSIC |
low complexity region
|
1485 |
1500 |
N/A |
INTRINSIC |
low complexity region
|
1512 |
1537 |
N/A |
INTRINSIC |
low complexity region
|
1556 |
1584 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112092
AA Change: S818P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107721 Gene: ENSMUSG00000042323 AA Change: S818P
Domain | Start | End | E-Value | Type |
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
BROMO
|
531 |
642 |
6.07e-39 |
SMART |
BROMO
|
666 |
780 |
3.01e-43 |
SMART |
BROMO
|
790 |
896 |
2.53e-18 |
SMART |
coiled coil region
|
922 |
949 |
N/A |
INTRINSIC |
BAH
|
971 |
1089 |
1.33e-45 |
SMART |
low complexity region
|
1098 |
1112 |
N/A |
INTRINSIC |
BAH
|
1171 |
1287 |
3.02e-35 |
SMART |
low complexity region
|
1333 |
1353 |
N/A |
INTRINSIC |
HMG
|
1393 |
1463 |
1.62e-21 |
SMART |
low complexity region
|
1479 |
1490 |
N/A |
INTRINSIC |
low complexity region
|
1519 |
1547 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112094
AA Change: S771P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107723 Gene: ENSMUSG00000042323 AA Change: S771P
Domain | Start | End | E-Value | Type |
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
low complexity region
|
322 |
338 |
N/A |
INTRINSIC |
BROMO
|
347 |
457 |
1.57e-32 |
SMART |
BROMO
|
484 |
595 |
6.07e-39 |
SMART |
BROMO
|
619 |
733 |
3.01e-43 |
SMART |
BROMO
|
743 |
849 |
2.53e-18 |
SMART |
coiled coil region
|
875 |
902 |
N/A |
INTRINSIC |
BAH
|
924 |
1042 |
1.33e-45 |
SMART |
low complexity region
|
1051 |
1065 |
N/A |
INTRINSIC |
BAH
|
1124 |
1240 |
3.02e-35 |
SMART |
low complexity region
|
1286 |
1306 |
N/A |
INTRINSIC |
HMG
|
1346 |
1416 |
2.87e-13 |
SMART |
low complexity region
|
1425 |
1450 |
N/A |
INTRINSIC |
low complexity region
|
1469 |
1497 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112095
AA Change: S803P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107724 Gene: ENSMUSG00000042323 AA Change: S803P
Domain | Start | End | E-Value | Type |
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
BROMO
|
516 |
627 |
6.07e-39 |
SMART |
BROMO
|
651 |
765 |
3.01e-43 |
SMART |
BROMO
|
775 |
881 |
2.53e-18 |
SMART |
coiled coil region
|
907 |
934 |
N/A |
INTRINSIC |
BAH
|
956 |
1074 |
1.33e-45 |
SMART |
low complexity region
|
1083 |
1097 |
N/A |
INTRINSIC |
BAH
|
1156 |
1272 |
3.02e-35 |
SMART |
low complexity region
|
1318 |
1338 |
N/A |
INTRINSIC |
HMG
|
1378 |
1448 |
2.87e-13 |
SMART |
low complexity region
|
1457 |
1482 |
N/A |
INTRINSIC |
low complexity region
|
1501 |
1529 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000146325
AA Change: S792P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000122805 Gene: ENSMUSG00000042323 AA Change: S792P
Domain | Start | End | E-Value | Type |
BROMO
|
64 |
174 |
4.97e-35 |
SMART |
BROMO
|
196 |
310 |
5.84e-41 |
SMART |
low complexity region
|
343 |
359 |
N/A |
INTRINSIC |
BROMO
|
368 |
478 |
1.57e-32 |
SMART |
BROMO
|
505 |
616 |
6.07e-39 |
SMART |
BROMO
|
640 |
754 |
3.01e-43 |
SMART |
BROMO
|
764 |
870 |
2.53e-18 |
SMART |
coiled coil region
|
896 |
923 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000135704
AA Change: S762P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115505 Gene: ENSMUSG00000042323 AA Change: S762P
Domain | Start | End | E-Value | Type |
BROMO
|
1 |
97 |
3.24e-25 |
SMART |
BROMO
|
119 |
233 |
5.84e-41 |
SMART |
low complexity region
|
298 |
314 |
N/A |
INTRINSIC |
BROMO
|
323 |
433 |
1.57e-32 |
SMART |
BROMO
|
475 |
586 |
6.07e-39 |
SMART |
BROMO
|
610 |
724 |
3.01e-43 |
SMART |
BROMO
|
734 |
840 |
2.53e-18 |
SMART |
low complexity region
|
862 |
892 |
N/A |
INTRINSIC |
BAH
|
914 |
1032 |
1.33e-45 |
SMART |
low complexity region
|
1041 |
1055 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112098
AA Change: S818P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107727 Gene: ENSMUSG00000042323 AA Change: S818P
Domain | Start | End | E-Value | Type |
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
BROMO
|
531 |
642 |
6.07e-39 |
SMART |
BROMO
|
666 |
780 |
3.01e-43 |
SMART |
BROMO
|
790 |
896 |
2.53e-18 |
SMART |
coiled coil region
|
922 |
949 |
N/A |
INTRINSIC |
BAH
|
971 |
1089 |
1.33e-45 |
SMART |
low complexity region
|
1098 |
1112 |
N/A |
INTRINSIC |
BAH
|
1171 |
1287 |
3.02e-35 |
SMART |
low complexity region
|
1333 |
1353 |
N/A |
INTRINSIC |
HMG
|
1393 |
1463 |
1.62e-21 |
SMART |
low complexity region
|
1479 |
1490 |
N/A |
INTRINSIC |
low complexity region
|
1500 |
1515 |
N/A |
INTRINSIC |
low complexity region
|
1527 |
1552 |
N/A |
INTRINSIC |
low complexity region
|
1571 |
1599 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000123678
AA Change: S803P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120549 Gene: ENSMUSG00000042323 AA Change: S803P
Domain | Start | End | E-Value | Type |
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
BROMO
|
516 |
627 |
6.07e-39 |
SMART |
BROMO
|
651 |
765 |
3.01e-43 |
SMART |
BROMO
|
775 |
856 |
2.3e-2 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000156628
AA Change: S803P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000123546 Gene: ENSMUSG00000042323 AA Change: S803P
Domain | Start | End | E-Value | Type |
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
BROMO
|
516 |
627 |
6.07e-39 |
SMART |
BROMO
|
651 |
765 |
3.01e-43 |
SMART |
BROMO
|
775 |
881 |
2.53e-18 |
SMART |
low complexity region
|
903 |
933 |
N/A |
INTRINSIC |
BAH
|
955 |
1073 |
1.33e-45 |
SMART |
low complexity region
|
1082 |
1096 |
N/A |
INTRINSIC |
BAH
|
1155 |
1271 |
3.02e-35 |
SMART |
low complexity region
|
1317 |
1337 |
N/A |
INTRINSIC |
HMG
|
1377 |
1447 |
2.87e-13 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000136237
AA Change: S803P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119722 Gene: ENSMUSG00000042323 AA Change: S803P
Domain | Start | End | E-Value | Type |
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
BROMO
|
516 |
627 |
6.07e-39 |
SMART |
BROMO
|
651 |
765 |
3.01e-43 |
SMART |
BROMO
|
775 |
859 |
7.08e-3 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012] PHENOTYPE: Homozygous null mice display embryonic lethality with hypoplastic cardiac ventricular chambers and malformation of the placenta. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
T |
C |
16: 20,180,979 (GRCm39) |
T1152A |
possibly damaging |
Het |
Adgra3 |
T |
C |
5: 50,118,659 (GRCm39) |
D963G |
probably benign |
Het |
Adrm1 |
T |
A |
2: 179,817,395 (GRCm39) |
D287E |
probably damaging |
Het |
Agxt |
A |
G |
1: 93,072,831 (GRCm39) |
D396G |
probably damaging |
Het |
Ankle1 |
C |
T |
8: 71,858,896 (GRCm39) |
A43V |
probably damaging |
Het |
Apc |
A |
G |
18: 34,448,281 (GRCm39) |
I1692V |
probably damaging |
Het |
Arhgef18 |
T |
C |
8: 3,500,802 (GRCm39) |
V588A |
probably benign |
Het |
Ccdc62 |
T |
A |
5: 124,072,247 (GRCm39) |
V4E |
probably benign |
Het |
Cdh16 |
A |
T |
8: 105,343,561 (GRCm39) |
|
probably benign |
Het |
Cr2 |
A |
T |
1: 194,848,696 (GRCm39) |
C276S |
probably damaging |
Het |
Cyp2c29 |
T |
A |
19: 39,275,567 (GRCm39) |
D2E |
probably damaging |
Het |
Ddx31 |
T |
A |
2: 28,749,035 (GRCm39) |
V277E |
possibly damaging |
Het |
Defa35 |
C |
T |
8: 21,555,930 (GRCm39) |
|
probably benign |
Het |
Dhx9 |
A |
T |
1: 153,340,376 (GRCm39) |
D707E |
probably benign |
Het |
Dnmt1 |
A |
G |
9: 20,852,669 (GRCm39) |
S28P |
probably benign |
Het |
Dock5 |
A |
T |
14: 67,994,667 (GRCm39) |
|
probably benign |
Het |
Dpp6 |
T |
C |
5: 27,928,365 (GRCm39) |
|
probably benign |
Het |
Egln1 |
A |
G |
8: 125,640,754 (GRCm39) |
|
probably null |
Het |
Esr1 |
T |
A |
10: 4,733,872 (GRCm39) |
M224K |
probably damaging |
Het |
Flt1 |
A |
G |
5: 147,615,109 (GRCm39) |
I279T |
possibly damaging |
Het |
Fzd6 |
T |
C |
15: 38,897,285 (GRCm39) |
I478T |
probably benign |
Het |
Glb1l3 |
A |
G |
9: 26,738,055 (GRCm39) |
V368A |
probably benign |
Het |
Gltpd2 |
T |
C |
11: 70,410,637 (GRCm39) |
F5S |
probably damaging |
Het |
Helz |
G |
A |
11: 107,577,264 (GRCm39) |
E1872K |
unknown |
Het |
Irak3 |
A |
G |
10: 120,018,429 (GRCm39) |
|
probably null |
Het |
Itsn2 |
A |
T |
12: 4,747,216 (GRCm39) |
I1206F |
probably damaging |
Het |
Lingo3 |
A |
T |
10: 80,670,988 (GRCm39) |
V314E |
probably benign |
Het |
Lrrc8a |
C |
T |
2: 30,145,698 (GRCm39) |
R171W |
probably damaging |
Het |
Lsg1 |
T |
C |
16: 30,390,024 (GRCm39) |
T364A |
probably benign |
Het |
Mks1 |
T |
C |
11: 87,753,478 (GRCm39) |
|
probably null |
Het |
Mov10l1 |
T |
A |
15: 88,872,729 (GRCm39) |
F89Y |
probably damaging |
Het |
Myo1b |
A |
C |
1: 51,840,337 (GRCm39) |
|
probably null |
Het |
Myo1h |
T |
C |
5: 114,497,000 (GRCm39) |
Y819H |
probably damaging |
Het |
Nedd1 |
G |
A |
10: 92,525,519 (GRCm39) |
Q597* |
probably null |
Het |
Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
Or5an9 |
A |
G |
19: 12,187,046 (GRCm39) |
T39A |
probably benign |
Het |
Pccb |
T |
C |
9: 100,866,449 (GRCm39) |
N457S |
probably benign |
Het |
Plekho2 |
T |
C |
9: 65,465,902 (GRCm39) |
E162G |
possibly damaging |
Het |
Pou1f1 |
A |
T |
16: 65,320,430 (GRCm39) |
T40S |
probably benign |
Het |
Pwwp2b |
T |
C |
7: 138,836,059 (GRCm39) |
V500A |
probably damaging |
Het |
Pygo1 |
C |
T |
9: 72,852,020 (GRCm39) |
A69V |
probably damaging |
Het |
Slc18a3 |
A |
C |
14: 32,185,772 (GRCm39) |
Y204D |
probably damaging |
Het |
Stab2 |
A |
G |
10: 86,707,785 (GRCm39) |
V261A |
possibly damaging |
Het |
Tacc2 |
A |
T |
7: 130,330,671 (GRCm39) |
K208N |
probably damaging |
Het |
Tbc1d4 |
T |
C |
14: 101,738,536 (GRCm39) |
D403G |
probably damaging |
Het |
Tbc1d9 |
T |
A |
8: 83,995,696 (GRCm39) |
|
probably benign |
Het |
Tdrkh |
T |
C |
3: 94,336,657 (GRCm39) |
|
probably benign |
Het |
Tktl2 |
T |
A |
8: 66,964,982 (GRCm39) |
L180H |
probably damaging |
Het |
Tm4sf19 |
T |
A |
16: 32,224,733 (GRCm39) |
L27Q |
probably damaging |
Het |
Tmtc2 |
A |
G |
10: 105,249,157 (GRCm39) |
V192A |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,543,328 (GRCm39) |
M33219I |
probably damaging |
Het |
Vmn1r52 |
A |
T |
6: 90,156,295 (GRCm39) |
M200L |
possibly damaging |
Het |
Vmn2r114 |
T |
A |
17: 23,510,263 (GRCm39) |
H739L |
probably benign |
Het |
Wdr20rt |
T |
C |
12: 65,272,692 (GRCm39) |
F52L |
probably benign |
Het |
Zbtb38 |
C |
T |
9: 96,569,227 (GRCm39) |
G619D |
probably benign |
Het |
Zfyve19 |
T |
C |
2: 119,041,999 (GRCm39) |
V156A |
probably benign |
Het |
|
Other mutations in Pbrm1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00598:Pbrm1
|
APN |
14 |
30,752,884 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00648:Pbrm1
|
APN |
14 |
30,774,240 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00654:Pbrm1
|
APN |
14 |
30,754,361 (GRCm39) |
splice site |
probably benign |
|
IGL00674:Pbrm1
|
APN |
14 |
30,840,733 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00701:Pbrm1
|
APN |
14 |
30,774,205 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00850:Pbrm1
|
APN |
14 |
30,809,576 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01024:Pbrm1
|
APN |
14 |
30,774,217 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01924:Pbrm1
|
APN |
14 |
30,804,561 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02122:Pbrm1
|
APN |
14 |
30,811,573 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02390:Pbrm1
|
APN |
14 |
30,754,467 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02675:Pbrm1
|
APN |
14 |
30,828,244 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02936:Pbrm1
|
APN |
14 |
30,783,470 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02997:Pbrm1
|
APN |
14 |
30,783,508 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03246:Pbrm1
|
APN |
14 |
30,832,506 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03290:Pbrm1
|
APN |
14 |
30,829,241 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03372:Pbrm1
|
APN |
14 |
30,806,976 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03386:Pbrm1
|
APN |
14 |
30,772,049 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4520001:Pbrm1
|
UTSW |
14 |
30,789,818 (GRCm39) |
missense |
probably damaging |
0.99 |
R0502:Pbrm1
|
UTSW |
14 |
30,786,777 (GRCm39) |
missense |
probably benign |
0.36 |
R0552:Pbrm1
|
UTSW |
14 |
30,757,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R0558:Pbrm1
|
UTSW |
14 |
30,807,016 (GRCm39) |
splice site |
probably null |
|
R0561:Pbrm1
|
UTSW |
14 |
30,757,948 (GRCm39) |
missense |
probably benign |
|
R0591:Pbrm1
|
UTSW |
14 |
30,768,387 (GRCm39) |
splice site |
probably benign |
|
R0835:Pbrm1
|
UTSW |
14 |
30,789,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R1167:Pbrm1
|
UTSW |
14 |
30,772,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R1209:Pbrm1
|
UTSW |
14 |
30,840,809 (GRCm39) |
missense |
probably damaging |
1.00 |
R1259:Pbrm1
|
UTSW |
14 |
30,796,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R1321:Pbrm1
|
UTSW |
14 |
30,789,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R1622:Pbrm1
|
UTSW |
14 |
30,754,505 (GRCm39) |
missense |
probably benign |
0.07 |
R1843:Pbrm1
|
UTSW |
14 |
30,760,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R1870:Pbrm1
|
UTSW |
14 |
30,828,132 (GRCm39) |
missense |
probably damaging |
0.99 |
R2202:Pbrm1
|
UTSW |
14 |
30,754,406 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2203:Pbrm1
|
UTSW |
14 |
30,754,406 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2247:Pbrm1
|
UTSW |
14 |
30,796,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R3237:Pbrm1
|
UTSW |
14 |
30,754,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R4091:Pbrm1
|
UTSW |
14 |
30,757,960 (GRCm39) |
missense |
probably benign |
0.00 |
R4280:Pbrm1
|
UTSW |
14 |
30,829,269 (GRCm39) |
critical splice donor site |
probably null |
|
R4379:Pbrm1
|
UTSW |
14 |
30,789,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R4381:Pbrm1
|
UTSW |
14 |
30,747,513 (GRCm39) |
missense |
probably benign |
0.02 |
R4816:Pbrm1
|
UTSW |
14 |
30,832,405 (GRCm39) |
missense |
probably benign |
0.32 |
R4939:Pbrm1
|
UTSW |
14 |
30,783,580 (GRCm39) |
missense |
probably damaging |
1.00 |
R4945:Pbrm1
|
UTSW |
14 |
30,774,173 (GRCm39) |
missense |
probably damaging |
0.97 |
R4958:Pbrm1
|
UTSW |
14 |
30,796,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R5095:Pbrm1
|
UTSW |
14 |
30,754,487 (GRCm39) |
missense |
probably benign |
0.00 |
R5276:Pbrm1
|
UTSW |
14 |
30,828,141 (GRCm39) |
missense |
probably damaging |
0.99 |
R5387:Pbrm1
|
UTSW |
14 |
30,804,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R5434:Pbrm1
|
UTSW |
14 |
30,806,968 (GRCm39) |
missense |
probably damaging |
0.96 |
R5476:Pbrm1
|
UTSW |
14 |
30,754,476 (GRCm39) |
missense |
probably benign |
0.00 |
R5522:Pbrm1
|
UTSW |
14 |
30,811,520 (GRCm39) |
missense |
probably damaging |
1.00 |
R5548:Pbrm1
|
UTSW |
14 |
30,827,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R5605:Pbrm1
|
UTSW |
14 |
30,757,949 (GRCm39) |
missense |
probably benign |
0.20 |
R6089:Pbrm1
|
UTSW |
14 |
30,809,542 (GRCm39) |
missense |
probably damaging |
0.99 |
R6159:Pbrm1
|
UTSW |
14 |
30,774,240 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6224:Pbrm1
|
UTSW |
14 |
30,772,068 (GRCm39) |
missense |
probably benign |
0.19 |
R6335:Pbrm1
|
UTSW |
14 |
30,806,052 (GRCm39) |
missense |
probably damaging |
1.00 |
R6499:Pbrm1
|
UTSW |
14 |
30,783,466 (GRCm39) |
missense |
probably damaging |
0.99 |
R6823:Pbrm1
|
UTSW |
14 |
30,806,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R7002:Pbrm1
|
UTSW |
14 |
30,786,777 (GRCm39) |
missense |
probably benign |
0.36 |
R7021:Pbrm1
|
UTSW |
14 |
30,789,773 (GRCm39) |
missense |
probably damaging |
0.98 |
R7216:Pbrm1
|
UTSW |
14 |
30,767,379 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7588:Pbrm1
|
UTSW |
14 |
30,806,900 (GRCm39) |
missense |
probably damaging |
0.99 |
R7828:Pbrm1
|
UTSW |
14 |
30,752,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R8035:Pbrm1
|
UTSW |
14 |
30,806,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R8188:Pbrm1
|
UTSW |
14 |
30,789,773 (GRCm39) |
missense |
probably damaging |
0.98 |
R8417:Pbrm1
|
UTSW |
14 |
30,749,419 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8517:Pbrm1
|
UTSW |
14 |
30,789,739 (GRCm39) |
missense |
probably benign |
0.00 |
R9024:Pbrm1
|
UTSW |
14 |
30,783,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R9294:Pbrm1
|
UTSW |
14 |
30,806,760 (GRCm39) |
nonsense |
probably null |
|
R9509:Pbrm1
|
UTSW |
14 |
30,806,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R9713:Pbrm1
|
UTSW |
14 |
30,828,123 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1088:Pbrm1
|
UTSW |
14 |
30,832,411 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Posted On |
2015-12-18 |